线粒体DNA缺失综合征
Mitochondrial DNA depletion syndrome
定义 英文原文（暂无中文）
A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
别名
线粒体DNA缺失综合征
基本事实
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（Israel）
相关基因 14来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| AFG3L2 | AFG3 like matrix AAA peptidase subunit 2 | ORPHA:313772 |
| AGK | acylglycerol kinase | ORPHA:1369 |
| DGUOK | deoxyguanosine kinase | ORPHA:279934 |
| DNA2 | DNA replication helicase/nuclease 2 | ORPHA:352470 |
| FBXL4 | F-box and leucine rich repeat protein 4 | ORPHA:369897 |
| MGME1 | mitochondrial genome maintenance exonuclease 1 | ORPHA:352447 |
| MPV17 | mitochondrial inner membrane protein MPV17 | ORPHA:255229 |
| POLG | DNA polymerase gamma, catalytic subunit | ORPHA:726 |
| RRM2B | ribonucleotide reductase regulatory TP53 inducible subunit M2B | ORPHA:255235 |
| SLC25A4 | solute carrier family 25 member 4 | ORPHA:1369 |
| SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | ORPHA:1933 |
| SUCLG1 | succinate-CoA ligase GDP/ADP-forming subunit alpha | ORPHA:17 |
| TKFC | triokinase and FMN cyclase | ORPHA:1369 |
| TWNK | twinkle mtDNA helicase | ORPHA:1186 |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）